Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 p.Thr263Ile (p.T263I)
(
ENST00000221930.6,
ENST00000600196.2,
ENST00000677934.1 )
TGFB1 p.Thr263Ile (p.T263I) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile) AND not provided
- ClinVar Allele ID
- 47506
- ClinVar RefSeq Alternation Syntax
- NM_000660.7:c.788C>T
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001522480
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs